Abstract
Blindness due to congenital falciform retinal folds and severe mental retardation were present in a male with an interstitial deletion, 46,XY, del(13) (q31.2q32.3).
MeSH terms
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Abnormalities, Multiple / genetics*
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Adult
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Blindness / congenital
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Blindness / genetics*
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Child
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Chromosome Banding
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Chromosome Deletion*
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Chromosomes, Human, 13-15*
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Dermatoglyphics
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Female
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Humans
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Intellectual Disability / genetics*
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Karyotyping
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Male